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Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen

Disorder Genes Test Method Lab Info Product code  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP11B1, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP17A1, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP21A2, Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP21A2, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 2q37 Microdeletion Syndrome Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia HSD3B2, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen Aarskog Syndrome FGD1, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen ABCA12-Related Autosomal Recessive Congenital Ichthyosis ABCA12, Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen ABCA4-Related Retinitis Pigmentosa Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen ABCA4-Related Retinitis Pigmentosa Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen ABCA4-Related Stargardt Disease 1 ABCA4, Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen ABCA4-Related Stargardt Disease 1 ABCA4, Sequence analysis of the entire coding region
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